Article
The phenotypic spectrum of fifty Czech m.3243A>G carriers.
Molecular genetics and metabolism - 1 Aug 2016
Dvorakova V, Kolarova H, Magner M, Tesarova M, Hansikova H, Zeman J, Honzik T
Abstract excerpt
BACKGROUND: Mitochondrial myopathy, Encephalopathy, Lactic Acidosis and Stroke-like episodes syndrome (MELAS) is a common mitochondrial disorder with varying multisystemic clinical manifestation. We present a comprehensive clinical picture of 50 Czech m.3243A>G carriers with emphasis on the sequence of symptoms in symptomatic patients. RESULTS: Symptoms developed in 33 patients (66%) and 17 carriers remained...
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